Cafe-au-lait macules with pulmonary stenosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cafe-au-lait macules with pulmonary stenosis | C0553586 | MAP2K2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24311457 | - |
| NF1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11704931, 21501659, 22847776, 23875798, 24896178 | - | ||
| SPRED1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 17704776 | - |